Center for Applied Genomics, The Childrens Hospital of Philadelphia, Pennsylvania 19104, USA.
Nat Rev Genet. 2010 Dec;11(12):843-54. doi: 10.1038/nrg2884.
Genome-wide association (GWA) studies have typically focused on the analysis of single markers, which often lacks the power to uncover the relatively small effect sizes conferred by most genetic variants. Recently, pathway-based approaches have been developed, which use prior biological knowledge on gene function to facilitate more powerful analysis of GWA study data sets. These approaches typically examine whether a group of related genes in the same functional pathway are jointly associated with a trait of interest. Here we review the development of pathway-based approaches for GWA studies, discuss their practical use and caveats, and suggest that pathway-based approaches may also be useful for future GWA studies with sequencing data.
全基因组关联（GWA）研究通常侧重于单个标记的分析，而这种分析往往缺乏发现大多数遗传变异所带来的相对较小效应大小的能力。最近，已经开发出基于途径的方法，这些方法利用关于基因功能的先前生物学知识，来促进对 GWA 研究数据集进行更强大的分析。这些方法通常检查同一功能途径中的一组相关基因是否与感兴趣的性状共同相关。在这里，我们回顾了用于 GWA 研究的基于途径的方法的发展，讨论了它们的实际用途和注意事项，并建议基于途径的方法对于未来使用测序数据的 GWA 研究也可能是有用的。
